Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs180177042
rs180177042
BRAF
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR The RASopathies. 23875798

2013
dbSNP: rs180177042
rs180177042
BRAF
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 19206169

2009
dbSNP: rs180177042
rs180177042
BRAF
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome. 18413255

2008
dbSNP: rs180177042
rs180177042
BRAF
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Neurological complications of cardio-facio-cutaneous syndrome. 18039235

2007
dbSNP: rs180177042
rs180177042
BRAF
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR The cardiofaciocutaneous syndrome. 16825433

2006
dbSNP: rs180177042
rs180177042
BRAF
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR LEOPARD syndrome: clinical diagnosis in the first year of life. 16523510

2006
dbSNP: rs180177042
rs180177042
BRAF
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Multiple lentigenes syndrome. 5771505

1969
dbSNP: rs180177042
rs180177042
BRAF
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease. 4386970

1968